ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828365334
Gene: TJP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
598097
ClinVar RCV Id:
RCV000734405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356801.1:p.Val48Met
CA5072919
NM_001369872.1:c.142G>A